Determining the genetic and social determinants of heart failure and mortality in patients with congenital heart disease
确定先天性心脏病患者心力衰竭和死亡率的遗传和社会决定因素
基本信息
- 批准号:10735690
- 负责人:
- 金额:$ 68.65万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2023
- 资助国家:美国
- 起止时间:2023-07-01 至 2028-06-30
- 项目状态:未结题
- 来源:
- 关键词:AdultAffectAreaBlack raceCardiacCardiac MyocytesCardiomyopathiesCardiovascular systemCause of DeathCellsCessation of lifeClinicalClinical DataClustered Regularly Interspaced Short Palindromic RepeatsCommunitiesCongenital AbnormalityCongenital Heart DefectsCounselingDataDatabasesDevelopmentDisparityEarly DiagnosisEarly InterventionEngineeringEnrollmentEnvironmental Risk FactorEthnic OriginFoundationsFrequenciesFutureGenesGeneticGenetic CodeGenetic DeterminismGenetic MarkersGenetic RiskGenomic DNAGenomic medicineGenomicsGeographic Information SystemsGoalsHealth Services AccessibilityHeartHeart failureHigh PrevalenceIn VitroIndividualInterventionKnowledgeLinkLive BirthLongevityMapsMeasuresMedicalMetabolicModelingMorbidity - disease rateMutationNorth CarolinaOperative Surgical ProceduresOutcomePatientsPeripheral Blood Mononuclear CellPopulationPositioning AttributePrognosisRaceRecordsResearchRiskRisk FactorsRoleSarcomeresSarcoplasmSignal TransductionSiteSurvivorsTestingTimeUnited StatesUniversitiesVariantWorkbiobankclinical encounterclinical phenotypecohortcongenital heart disorderdemographicsexome sequencingexperiencegenetic analysisgenetic varianthealth care availabilityhealth disparityhigh riskimprovedinduced pluripotent stem celllow socioeconomic statusmortalitymultidisciplinarypopulation basedprospectiverare variantrepairedsocialsocial determinantssocial health determinantssocioeconomicsstem cell modelsurveillance networktoolvirtual model
项目摘要
PROJECT SUMMARY/ABSTRACT
Congenital heart defects (CHDs) affect nearly 1% of live births in the United States. CHDs are associated with high
morbidity and are the most common birth defect-related cause of death. Rapid advancement in the early diagnosis, medical
management, and treatment of CHD have led to tremendous gains in survival; however, heart failure (HF) is the leading
cause of death in adults with CHD. This makes identifying the risk factors of HF across the lifespan critical so that
individuals at the highest risk can be identified and managed. We have brought together a multi-disciplinary team with
significant experience in population-based CHD outcomes, social determinants of health, and cardiovascular genetics to fill
these critical knowledge gaps. Since 2008, our team has led the North Carolina Congenital Heart Disease Surveillance
Network (NC-CHD) which links the 5 major academic centers in North Carolina in a surveillance network for the vast
majority of patients with CHD in the state. NC-CHD links clinical records to a variety of robust, state, and national databases
to conduct outcomes-based research on survivors of CHD across the lifespan. This puts our team in a unique position to
establish a prospectively enrolled cohort of CHD survivors with rich clinical phenotyping for comprehensive genetic and
outcomes-based research to determine the causes of HF in this population. The goal of our study is to develop a large, well-
curated, population-based cohort of individuals with CHD in the state of North Carolina (NC-DEFINE) to identify social
determinants of health and genetic factors which influence CHD outcomes, specifically HF. We hypothesize that social
determinants of health and rare genetic variants localizing to sarcomeric genes are associated with HF development among
survivors of CHD. To test this hypothesis, we propose 3 specific aims: 1) To identify the social determinants of health
associated with the development of HF in cohort of 600 patients with CHD which will comprise NC-DEFINE. 2) To
determine the coding genetic variants associated with the development of HF among patients with CHD in NC-DEFINE.
3) To determine the functional impact of candidate variants associated with HF in CHD using patient-derived cardiac
myocytes. If we are successful, this project will allow for identification of CHD patients at heightened risk of HF based on
either social or genetic risk, allowing for informed counseling at the time of surgical repair and early intervention to control
reversible risk factors associated with HF. Further, NC-DEFINE will lay the foundation for a genomic medicine-based
approach to predicting CHD prognosis and outcomes.
项目总结/文摘
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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Andrew P. Landstrom其他文献
CARDIOVASCULAR DISEASE RISK FACTORS IN CHILDREN AND ADULTS WITH CONGENITAL HEART DISEASE ARE ASSOCIATED WITH HEART FAILURE: A POPULATION-BASED MULTI-SITE CROSS SECTIONAL ANALYSIS
- DOI:
10.1016/s0735-1097(21)01799-x - 发表时间:
2021-05-11 - 期刊:
- 影响因子:
- 作者:
Andrew P. Landstrom;Tracy Spears;Alfred D’Ottavio;Karen Chiswell;Kristin Sommerhalter;Aida Soim;Sherry Farr;Tessa Crume;Wendy Book;Kevin Whitehead;Lorenzo Botto;Jennifer Li;Daphne Hsu - 通讯作者:
Daphne Hsu
Genetic Variants and Post-Translational Modifications of Cardiac Troponin C: Insights from the Public Databases
- DOI:
10.1016/j.bpj.2020.11.2136 - 发表时间:
2021-02-12 - 期刊:
- 影响因子:
- 作者:
Tyler R. Reinoso;Maicon Landim-Vieira;Yun Shi;Jamie R. Johnston;Michelle S. Parvatiyar;J. Renato D. Pinto;Andrew P. Landstrom;Prescott B. Chase;Hanna J. Tadros - 通讯作者:
Hanna J. Tadros
Characterization of LV function using myocardial strain analysis in cardiac TnC-A8V mouse model
- DOI:
10.1016/j.bpj.2023.11.1683 - 发表时间:
2024-02-08 - 期刊:
- 影响因子:
- 作者:
Paula Nieto Morales;Amanda M. Mascarenhas;Michael O. Assibey;Andrew P. Landstrom;Prescott B. Chase;Vitold E. Galkin;Stephen P. Chelko;J. Renato D. Pinto - 通讯作者:
J. Renato D. Pinto
<strong>Early clinical phenotype of late-onset Pompe disease: Lessons learned from newborn screening</strong>
- DOI:
10.1016/j.ymgme.2021.11.141 - 发表时间:
2022-02-01 - 期刊:
- 影响因子:
- 作者:
Erin Huggins;Maggie Holland;Laura E. Case;Janet Blount;Andrew P. Landstrom;Harrison N. Jones;Priya S. Kishnani - 通讯作者:
Priya S. Kishnani
PO-02-126 strongDEEP PHENOTYPING OF emDSP/em-ENCODED DESMOPLAKIN CARRYING GENOTYPE POSITIVE UKBB SUBJECTS REVEALS ECG CHANGES AS A POSSIBLE EARLY DIAGNOSTIC MARKER OF DISEASE/strong
PO-02-126 对携带 emDSP/em-ENCODED DESMOPLAKIN 基因型的 UKBB 阳性受试者进行强深度表型分析,揭示心电图变化作为疾病可能的早期诊断标志物
- DOI:
10.1016/j.hrthm.2023.03.713 - 发表时间:
2023-05-01 - 期刊:
- 影响因子:5.700
- 作者:
Manasa Gurumoorthi;Ghaith Sharaf Dabbagh;Leonie M. Kurzlechner;Ravi Shah;Arpan Akbar;Babken Asatryan;Corey Snyder;Devyani Chowdhury;Anwar A.A. Chahal;Andrew P. Landstrom - 通讯作者:
Andrew P. Landstrom
Andrew P. Landstrom的其他文献
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{{ truncateString('Andrew P. Landstrom', 18)}}的其他基金
Exploring the role of ATP1A3 mutations in sudden unexplained death in epilepsy
探索 ATP1A3 突变在癫痫不明原因猝死中的作用
- 批准号:
10522820 - 财政年份:2022
- 资助金额:
$ 68.65万 - 项目类别:
Exploring the role of ATP1A3 mutations in sudden unexplained death in epilepsy
探索 ATP1A3 突变在癫痫不明原因猝死中的作用
- 批准号:
10688211 - 财政年份:2022
- 资助金额:
$ 68.65万 - 项目类别:
The Role of Junctophilin Type 2 in Cardiac Node Automaticity
2 型亲结蛋白在心脏结自律性中的作用
- 批准号:
10178073 - 财政年份:2018
- 资助金额:
$ 68.65万 - 项目类别:
The Role of Junctophilin Type 2 in Cardiac Node Automaticity
2 型亲结蛋白在心脏结自律性中的作用
- 批准号:
9294240 - 财政年份:2017
- 资助金额:
$ 68.65万 - 项目类别:
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